Shared mechanisms and pathological phenotypes underlying aminoacyl-tRNA synthetase-related neuropathies
Elena R.Rhymes1
James N.Sleigh2
1.Department of Neuromuscular Diseases and UCL Queen Square Motor Neuron Disease Centre,UCL Queen Square Institute of Neurology,University College London,London,UK2.Department of Neuromuscular Diseases and UCL Queen Square Motor Neuron Disease Centre,UCL Queen Square Institute of Neurology,University College London,London,UK;UK Dementia Research Institute,University College London,London,UK
摘要：Charcot-Marie-Tooth disease(CMT)is a heterogeneous group of inherited peripheral neuropathies;it is characterized by muscle weakness and wasting,as well as sensory dysfunction,that typically begins during adolescence and ultimately leads to lifelong disability.Occurring in～1 in 2500 individuals,CMT is the most common hereditary neuromuscular condition and results from mutations in＞100 different genes.CMT is grouped into type 1(CMT1),where demyelination and loss of nerve conduction velocity occur,type 2(CMT2),where motor and sensory axons degenerate without loss of myelination/nerve conduction velocity,and intermediate CMT,where both demyelination and axon loss present alongside intermediate nerve conduction velocities.
机标关键词：aminoacyl-trnamechanismsneuropathiespathologicalphenotypesrelatedsharedsynthetase
论文发表日期：2026-01-30
在线出版日期：2025-12-11（本平台首次上网日期，不代表文献的发表时间）
页数：2( 312-313 )